Details for: KCNH5

Gene ID: 27133

Symbol: KCNH5

Ensembl ID: ENSG00000140015

Description: potassium voltage-gated channel subfamily H member 5

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 3.2989
    Cell Significance Index: -7.2200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.7195
    Cell Significance Index: 344.9400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.2548
    Cell Significance Index: 569.5100
  • Cell Name: L6 corticothalamic-projecting glutamatergic cortical neuron (CL4023042)
    Fold Change: 0.7174
    Cell Significance Index: 7.9200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.4636
    Cell Significance Index: 166.2800
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.4490
    Cell Significance Index: 310.5300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.3889
    Cell Significance Index: 20.4200
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 0.2093
    Cell Significance Index: 2.4000
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 0.1800
    Cell Significance Index: 2.1800
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: 0.1584
    Cell Significance Index: 1.7900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.1441
    Cell Significance Index: 9.6900
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: 0.0601
    Cell Significance Index: 0.7800
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 0.0480
    Cell Significance Index: 0.3700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0200
    Cell Significance Index: 27.2000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0016
    Cell Significance Index: -2.9700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0021
    Cell Significance Index: -3.8100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0044
    Cell Significance Index: -6.8300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0131
    Cell Significance Index: -9.7100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0164
    Cell Significance Index: -10.4300
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0210
    Cell Significance Index: -0.6700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0247
    Cell Significance Index: -4.9100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0260
    Cell Significance Index: -11.4800
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.0318
    Cell Significance Index: -0.6800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0404
    Cell Significance Index: -22.7700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0409
    Cell Significance Index: -25.5600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0444
    Cell Significance Index: -6.4500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0518
    Cell Significance Index: -14.9100
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.0541
    Cell Significance Index: -1.3100
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: -0.0742
    Cell Significance Index: -0.9900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0755
    Cell Significance Index: -9.6800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0898
    Cell Significance Index: -15.3400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0967
    Cell Significance Index: -17.4400
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0980
    Cell Significance Index: -4.2600
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.0991
    Cell Significance Index: -1.0800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1048
    Cell Significance Index: -22.0700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1145
    Cell Significance Index: -3.7500
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1185
    Cell Significance Index: -2.0300
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1194
    Cell Significance Index: -1.7100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1267
    Cell Significance Index: -17.4000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1297
    Cell Significance Index: -13.5100
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.1360
    Cell Significance Index: -2.6900
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.1391
    Cell Significance Index: -3.0100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.1479
    Cell Significance Index: -18.1800
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: -0.1550
    Cell Significance Index: -2.6500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1587
    Cell Significance Index: -4.5300
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.1714
    Cell Significance Index: -2.0000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1814
    Cell Significance Index: -5.0700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1942
    Cell Significance Index: -22.6300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2075
    Cell Significance Index: -23.7700
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.2185
    Cell Significance Index: -2.7100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2208
    Cell Significance Index: -16.9500
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.2511
    Cell Significance Index: -2.3800
  • Cell Name: invaginating midget bipolar cell (CL4033034)
    Fold Change: -0.2576
    Cell Significance Index: -3.1800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.2733
    Cell Significance Index: -17.2300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.2891
    Cell Significance Index: -7.7200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.3013
    Cell Significance Index: -14.0500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.3206
    Cell Significance Index: -17.9900
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.3225
    Cell Significance Index: -6.4800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.3330
    Cell Significance Index: -8.5600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.3409
    Cell Significance Index: -15.0800
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.3605
    Cell Significance Index: -3.4300
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3642
    Cell Significance Index: -7.7300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.3687
    Cell Significance Index: -22.6600
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.3694
    Cell Significance Index: -12.9400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.3782
    Cell Significance Index: -19.7000
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.3824
    Cell Significance Index: -9.5400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.4339
    Cell Significance Index: -16.4300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.4385
    Cell Significance Index: -20.6100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.4468
    Cell Significance Index: -23.2100
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.4508
    Cell Significance Index: -16.5500
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.4634
    Cell Significance Index: -3.1400
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.4735
    Cell Significance Index: -5.9800
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.4832
    Cell Significance Index: -9.4300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.4842
    Cell Significance Index: -21.9500
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.4876
    Cell Significance Index: -17.1400
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.4978
    Cell Significance Index: -10.3900
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: -0.5088
    Cell Significance Index: -5.4700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.5472
    Cell Significance Index: -19.0200
  • Cell Name: granule cell (CL0000120)
    Fold Change: -0.5529
    Cell Significance Index: -6.3000
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.5904
    Cell Significance Index: -7.8700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.5912
    Cell Significance Index: -17.0400
  • Cell Name: intratelencephalic-projecting glutamatergic cortical neuron (CL4023008)
    Fold Change: -0.6099
    Cell Significance Index: -6.2700
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.6169
    Cell Significance Index: -19.5100
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.6184
    Cell Significance Index: -10.1900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.6348
    Cell Significance Index: -17.2800
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.6463
    Cell Significance Index: -12.7200
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: -0.6506
    Cell Significance Index: -7.7800
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.6526
    Cell Significance Index: -13.6600
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.6712
    Cell Significance Index: -19.7700
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.6762
    Cell Significance Index: -17.2300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.6935
    Cell Significance Index: -17.3400
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.6996
    Cell Significance Index: -17.0700
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.7206
    Cell Significance Index: -14.3700
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.7254
    Cell Significance Index: -14.7600
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.7475
    Cell Significance Index: -12.9300
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.7570
    Cell Significance Index: -21.7000
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.7720
    Cell Significance Index: -20.3000
  • Cell Name: L4 intratelencephalic projecting glutamatergic neuron (CL4030063)
    Fold Change: -0.7823
    Cell Significance Index: -8.5800
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.8183
    Cell Significance Index: -19.6300
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.8184
    Cell Significance Index: -20.4400

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** KCNH5 is a transmembrane protein that forms a potassium voltage-gated channel complex, which is essential for the regulation of membrane potential. The channel is composed of four subunits, with KCNH5 being one of the subunits that confers the voltage-gated properties to the channel. KCNH5 is highly expressed in various cell types, including neurons, endothelial cells, and immune cells. The protein exhibits a unique structure, consisting of six transmembrane domains and two intracellular domains, which are critical for the channel's function. **Pathways and Functions** KCNH5 is involved in several key pathways, including: 1. **Voltage-gated potassium channel activity**: KCNH5 plays a crucial role in regulating membrane potential by allowing potassium ions to flow out of the cell in response to changes in voltage. 2. **Regulation of membrane potential**: KCNH5 helps to maintain the resting membrane potential and regulate the excitability of neurons and other cells. 3. **Calcium signaling**: KCNH5 interacts with calmodulin, a calcium-binding protein, to regulate calcium-dependent signaling pathways. 4. **Regulation of the cell cycle**: KCNH5 has been implicated in the regulation of the G2/M transition of the cell cycle, which is critical for cell proliferation and differentiation. **Clinical Significance** Dysregulation of KCNH5 has been linked to several disorders, including: 1. **Long QT syndrome type 5**: A rare genetic disorder characterized by abnormal heart rhythms and sudden death. 2. **Neuropathic pain**: KCNH5 has been implicated in the regulation of pain transmission and has been used as a therapeutic target for pain management. 3. **Immune system dysfunction**: KCNH5 has been shown to play a role in the regulation of immune cell function and has been implicated in autoimmune disorders. 4. **Cancer**: KCNH5 has been found to be overexpressed in certain types of cancer, including breast and lung cancer. In conclusion, KCNH5 is a critical component of the voltage-gated potassium channel complex, which plays a vital role in regulating membrane potential and maintaining proper cellular function. Its dysregulation has been linked to several disorders, highlighting its importance in maintaining cellular homeostasis. Further research is needed to fully understand the mechanisms by which KCNH5 regulates membrane potential and its role in various diseases.

Genular Protein ID: 1205577597

Symbol: KCNH5_HUMAN

Name: Ether-a-go-go potassium channel 2

UniProtKB Accession Codes:

Q8NCM2 C9JP98

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 2 CTD 1 ChEBI 2 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 3 DrugCentral 1 EMBL 10 EMDB 6 Ensembl 3 GO 12 Gene3D 4 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 11 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 6 PDBsum 6 PRINTS 2 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 RNAct 1 Reactome 1 RefSeq 2 Rhea 1 SMART 2 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 11943152

Title: Functional distinction of human EAG1 and EAG2 potassium channels.

PubMed ID: 11943152

DOI: 10.1016/s0014-5793(02)02365-7

PubMed ID: 12135768

Title: Molecular identification and characterisation of the human eag2 potassium channel.

PubMed ID: 12135768

DOI: 10.1016/s0014-5793(02)03055-7

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 12508121

Title: The DNA sequence and analysis of human chromosome 14.

PubMed ID: 12508121

DOI: 10.1038/nature01348

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 18655026

Title: Proteomic analysis of ubiquitinated proteins in normal hepatocyte cell line Chang liver cells.

PubMed ID: 18655026

DOI: 10.1002/pmic.200700887

PubMed ID: 23647072

Title: Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.

PubMed ID: 23647072

DOI: 10.1111/epi.12201

PubMed ID: 36928654

Title: Mechanism underlying delayed rectifying in human voltage-mediated activation Eag2 channel.

PubMed ID: 36928654

DOI: 10.1038/s41467-023-37204-6

PubMed ID: 24133262

Title: Multistate structural modeling and voltage-clamp analysis of epilepsy/autism mutation Kv10.2-R327H demonstrate the role of this residue in stabilizing the channel closed state.

PubMed ID: 24133262

DOI: 10.1523/jneurosci.2307-13.2013

PubMed ID: 32725632

Title: Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late.

PubMed ID: 32725632

DOI: 10.1111/cge.13823

PubMed ID: 34136434

Title: Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University Hospital.

PubMed ID: 34136434

DOI: 10.3389/fped.2021.600556

PubMed ID: 35874597

Title: Clinical Feature, Treatment, and KCNH5 Mutations in Epilepsy.

PubMed ID: 35874597

DOI: 10.3389/fped.2022.858008

PubMed ID: 36307226

Title: Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5.

PubMed ID: 36307226

DOI: 10.1212/wnl.0000000000201492

Sequence Information:

  • Length: 988
  • Mass: 111877
  • Checksum: A58E4CE0A32C83BC
  • Sequence:
    • MPGGKRGLVA PQNTFLENIV RRSSESSFLL GNAQIVDWPV VYSNDGFCKL SGYHRADVMQ 
KSSTCSFMYG ELTDKKTIEK VRQTFDNYES NCFEVLLYKK NRTPVWFYMQ IAPIRNEHEK 
VVLFLCTFKD ITLFKQPIED DSTKGWTKFA RLTRALTNSR SVLQQLTPMN KTEVVHKHSR 
LAEVLQLGSD ILPQYKQEAP KTPPHIILHY CAFKTTWDWV ILILTFYTAI MVPYNVSFKT 
KQNNIAWLVL DSVVDVIFLV DIVLNFHTTF VGPGGEVISD PKLIRMNYLK TWFVIDLLSC 
LPYDIINAFE NVDEGISSLF SSLKVVRLLR LGRVARKLDH YLEYGAAVLV LLVCVFGLVA 
HWLACIWYSI GDYEVIDEVT NTIQIDSWLY QLALSIGTPY RYNTSAGIWE GGPSKDSLYV 
SSLYFTMTSL TTIGFGNIAP TTDVEKMFSV AMMMVGSLLY ATIFGNVTTI FQQMYANTNR 
YHEMLNNVRD FLKLYQVPKG LSERVMDYIV STWSMSKGID TEKVLSICPK DMRADICVHL 
NRKVFNEHPA FRLASDGCLR ALAVEFQTIH CAPGDLIYHA GESVDALCFV VSGSLEVIQD 
DEVVAILGKG DVFGDIFWKE TTLAHACANV RALTYCDLHI IKREALLKVL DFYTAFANSF 
SRNLTLTCNL RKRIIFRKIS DVKKEEEERL RQKNEVTLSI PVDHPVRKLF QKFKQQKELR 
NQGSTQGDPE RNQLQVESRS LQNGASITGT SVVTVSQITP IQTSLAYVKT SESLKQNNRD 
AMELKPNGGA DQKCLKVNSP IRMKNGNGKG WLRLKNNMGA HEEKKEDWNN VTKAESMGLL 
SEDPKSSDSE NSVTKNPLRK TDSCDSGITK SDLRLDKAGE ARSPLEHSPI QADAKHPFYP 
IPEQALQTTL QEVKHELKED IQLLSCRMTA LEKQVAEILK ILSEKSVPQA SSPKSQMPLQ 
VPPQIPCQDI FSVSRPESPE SDKDEIHF

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.